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Cytochrome P450 17A1 (CYP17A1) belongs to the cytochrome P450 family; it plays a role in the conversion of pregnenolone and progesterone into their 17-alpha-hydroxylated products and subsequently to dehydroepiandrosterone (DHEA) and androstenedione. CYP17A1 also catalyzes both the 17-alpha-hydroxylation and the 17,20-lyase reaction. CYP17A1 is involved in sexual development during fetal life and at puberty. Defects in CYP17A1 are the cause of adrenal hyperplasia type 5 (AH5). AH5 is a form

The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as matu

Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphoryl

Barrier-to-autointegration factor (BAF) binds non-specifically to double stranded DNA, possibly to play a role in tissue- or cell type-specific gene expression by interacting with different homeodomain transcription factors. BAF compresses chromatin structure and interacts with the LEM domain of nuclear proteins to play a crucial role in membrane recruitment and chromatin decondensation during nuclear assembly. Additionally, retroviruses like HIV-1 incorporate BAF from host cells into preinte

Nck is a highly conserved, oncogenic protein. It is a common target for the action of different surface receptors, encoding one SH2 and three SH3 domains, the Src homology motifs found in nonreceptor tyrosine kinases, Ras GTPase activating protein, phosphatidylinositol 3 kinase, and phospholipase Cg. Nck is widely expressed in various tissues and in cell lines from human, murine, and rat origins. Nck is phosphorylated on tyrosine, serine, and threonine residues in response to stimulation o

There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]